MCID: HMH003
MIFTS: 22

Hemihyperplasia-Multiple Lipomatosis Syndrome

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hemihyperplasia-Multiple Lipomatosis Syndrome

Summaries for Hemihyperplasia-Multiple Lipomatosis Syndrome

MalaCards based summary : Hemihyperplasia-Multiple Lipomatosis Syndrome, also known as hhml, is related to pik3ca-related overgrowth spectrum and lipomatosis. An important gene associated with Hemihyperplasia-Multiple Lipomatosis Syndrome is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha). Affiliated tissues include skin, kidney and testis, and related phenotypes are overgrowth and abnormality of the cerebral vasculature

Wikipedia : 77 Hemihyperplasia–multiple lipomatosis syndrome is a cutaneous condition characterized by multiple lipomas... more...

Related Diseases for Hemihyperplasia-Multiple Lipomatosis Syndrome

Diseases related to Hemihyperplasia-Multiple Lipomatosis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pik3ca-related overgrowth spectrum 11.5
2 lipomatosis 10.6
3 hydrocephalus 10.2
4 congenital hydrocephalus 10.2

Symptoms & Phenotypes for Hemihyperplasia-Multiple Lipomatosis Syndrome

Human phenotypes related to Hemihyperplasia-Multiple Lipomatosis Syndrome:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 overgrowth 60 33 obligate (100%) Obligate (100%) HP:0001548
2 abnormality of the cerebral vasculature 60 33 frequent (33%) Frequent (79-30%) HP:0100659
3 macrodactyly 60 33 frequent (33%) Frequent (79-30%) HP:0004099
4 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
5 microtia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008551
6 lipoatrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0100578
7 nevus 60 33 occasional (7.5%) Occasional (29-5%) HP:0003764
8 multiple lipomas 60 33 occasional (7.5%) Occasional (29-5%) HP:0001012
9 telangiectasia of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0100585
10 abnormality of the lymphatic system 60 33 occasional (7.5%) Occasional (29-5%) HP:0100763
11 seborrheic dermatitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001051
12 foot polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001829
13 enlarged kidney 60 33 occasional (7.5%) Occasional (29-5%) HP:0000105
14 hydrocele testis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000034
15 ovarian serous cystadenoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0012887
16 abnormal venous morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0002624
17 2-4 toe syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0010714
18 hyperparakeratosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0040009
19 nephroblastoma 60 33 very rare (1%) Very rare (<4-1%) HP:0002667

Drugs & Therapeutics for Hemihyperplasia-Multiple Lipomatosis Syndrome

Search Clinical Trials , NIH Clinical Center for Hemihyperplasia-Multiple Lipomatosis Syndrome

Genetic Tests for Hemihyperplasia-Multiple Lipomatosis Syndrome

Anatomical Context for Hemihyperplasia-Multiple Lipomatosis Syndrome

MalaCards organs/tissues related to Hemihyperplasia-Multiple Lipomatosis Syndrome:

42
Skin, Kidney, Testis

Publications for Hemihyperplasia-Multiple Lipomatosis Syndrome

Articles related to Hemihyperplasia-Multiple Lipomatosis Syndrome:

# Title Authors Year
1
Two cases of hemihyperplasia-multiple lipomatosis syndrome and review of asymmetric hemihyperplasia syndromes. ( 23458125 )
2014
2
Hemihyperplasia-multiple lipomatosis syndrome associated with hydrocephalus. ( 25365846 )
2014
3
Hemihyperplasia-multiple lipomatosis syndrome: an underdiagnosed entity in children with asymmetric overgrowth. ( 20105568 )
2010
4
Tumescent liposuction in the treatment of hemihyperplasia multiple lipomatosis syndrome. ( 19438675 )
2009
5
Hemihyperplasia-multiple lipomatosis syndrome (HHML): a challenge in spinal care. ( 19058713 )
2008

Variations for Hemihyperplasia-Multiple Lipomatosis Syndrome

Expression for Hemihyperplasia-Multiple Lipomatosis Syndrome

Search GEO for disease gene expression data for Hemihyperplasia-Multiple Lipomatosis Syndrome.

Pathways for Hemihyperplasia-Multiple Lipomatosis Syndrome

GO Terms for Hemihyperplasia-Multiple Lipomatosis Syndrome

Sources for Hemihyperplasia-Multiple Lipomatosis Syndrome

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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